R361C (p.Arg361Cys) variant of GATA2 (P23769)
R361C (p.Arg361Cys) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Monocytopenia with susceptibility to infections; GATA2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
R361C (p.Arg361Cys) variant details
- p.Arg361Cys
- rs1426175410
- ClinGen CA354413577
- cosmic curated COSV10035
- ClinVar RCV000528994
- Pathogenic/Likely pathogenic
- not provided; Monocytopenia with susceptibility to infections; GATA2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- REVEL 0.97
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.91
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Monocytopenia with susceptibility to infections; G)
- EBI: Pathogenic (in LMPM)
- UniProt: Pathogenic (in LMPM)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: CEBPA-Associated Familial Acute Myeloid Leukemia (AML). (PMID 20963938)
- Cited in: NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. (PMID 22138009)